Genetic basis of eugonadal and hypogonadal female reproductive disorders

Tatiana Trofimova; Daria Lizneva; Larisa Suturina; Walidah Walker; Yen-Hao Chen; Ricardo Azziz; Lawrence C Layman

doi:10.1016/j.bpobgyn.2017.05.003

Genetic basis of eugonadal and hypogonadal female reproductive disorders

Best Pract Res Clin Obstet Gynaecol. 2017 Oct:44:3-14. doi: 10.1016/j.bpobgyn.2017.05.003. Epub 2017 May 9.

Authors

Tatiana Trofimova¹, Daria Lizneva², Larisa Suturina³, Walidah Walker⁴, Yen-Hao Chen⁴, Ricardo Azziz⁵, Lawrence C Layman⁶

Affiliations

¹ Department of Reproductive Health Protection, Scientific Center of Family Health and Human Reproduction, 16, Timiryazeva Street, 664003, Irkutsk, Russian Federation.
² Department of Reproductive Health Protection, Scientific Center of Family Health and Human Reproduction, 16, Timiryazeva Street, 664003, Irkutsk, Russian Federation; Section of Reproductive Endocrinology, Infertility, & Genetics, Department of Obstetrics & Gynecology, Medical College of Georgia, Augusta University, 1120 15th Street, 30912 Augusta, GA, USA.
³ Department of Reproductive Health Protection, Scientific Center of Family Health and Human Reproduction, 16, Timiryazeva Street, 664003, Irkutsk, Russian Federation; Irkutsk State Medical Academy for Postgraduate Education, 100, Yubileyniy, 664049, Irkutsk, Russian Federation.
⁴ Section of Reproductive Endocrinology, Infertility, & Genetics, Department of Obstetrics & Gynecology, Medical College of Georgia, Augusta University, 1120 15th Street, 30912 Augusta, GA, USA.
⁵ Section of Reproductive Endocrinology, Infertility, & Genetics, Department of Obstetrics & Gynecology, Medical College of Georgia, Augusta University, 1120 15th Street, 30912 Augusta, GA, USA; State University of New York (SUNY), State University Plaza, 353 Broadway, Albany, NY, USA 12246.
⁶ Section of Reproductive Endocrinology, Infertility, & Genetics, Department of Obstetrics & Gynecology, Medical College of Georgia, Augusta University, 1120 15th Street, 30912 Augusta, GA, USA. Electronic address: lalayman@augusta.edu.

PMID: 28576390
DOI: 10.1016/j.bpobgyn.2017.05.003

Abstract

This review discusses the current state of our understanding regarding the genetic basis of the most important reproductive disorders in women. For clarity, these disorders have been divided into eugonadal and hypogonadal types. Hypogonadal disorders have been further subdivided according to serum gonadotropin levels. Our review focuses on historical and recent data regarding the genetics of the hypothalamic-pituitary-gonadal axis dysfunction, as well as the development and etiology of eugonadal disorders including leiomyomata, endometriosis, spontaneous ovarian hyperstimulation syndrome, polycystic ovarian syndrome, mullerian aplasia, and steroid hormone resistance syndromes. We discuss the known genes most commonly involved in hypergonadotropic hypogonadism (Turner syndrome and premature ovarian failure) and hypogonadotrophic hypogonadism (Kallmann syndrome and normosmic types). In addition, we summarize the current clinical testing approaches and their utility in practical application.

Keywords: Kallmann syndrome; Mullerian aplasia; OHSS; PCOS; POF; endometriosis; fibroids; hypogonadism.

Publication types

Review

MeSH terms

Endometriosis / genetics*
Female
Genome-Wide Association Study
Humans
Hyperandrogenism / genetics*
Hypogonadism / genetics*
Leiomyoma / genetics*
Male
Mullerian Ducts / abnormalities*
Ovarian Hyperstimulation Syndrome / genetics*
Phenotype
Polycystic Ovary Syndrome / genetics*

Supplementary concepts

Mullerian Aplasia and Hyperandrogenism